Pinilla J Martínez, Ayala-Ramírez P, García-Robles R, Olaya-C M, Bermúdez M
Pontificia Universidad Javeriana, Bogotá D.C., Colombia.
Institute in Human Genetics, Pontificia Universidad Javeriana, Bogotá D.C., Colombia.
J Neonatal Perinatal Med. 2015;8(2):77-84. doi: 10.3233/NPM-15814092.
Down syndrome is the most frequent aneuploidy in live births, with an overall frequency of 1/600-700 births. The overexpression of cystathionine β-synthase is thought to participate in the presentation of some phenotypes observed in Down syndrome.
The aim of this study was to compare the expression levels of cystathionine β-synthase and histopathological observations from placentas of infants with Down syndrome and healthy newborns.
Six placentas of fetuses/infants with Down syndrome and sixteen placentas of healthy fetuses were studied. Cystathionine β-synthase mRNA and protein expression were performed by real-time PCR and immunohistochemistry, respectively.
We observed an increase in cystathionine β-synthase mRNA expression (p = 0.0465) and protein levels (p = 0.009) in placentas of fetus/infants with Down syndrome compared with controls. Significantly more circinate edges (p = 0.0007) and trophoblast inclusions (p = 0.0037) were observed in the group with Down syndrome compared with control group.
The results demonstrate overexpression of cystathionine β-synthase mRNA and protein in placentas of fetuses/infants with trisomy 21. Further histological abnormalities were found in placentas of patients with Down syndrome, suggesting an alteration in the development of placenta.
唐氏综合征是活产中最常见的非整倍体疾病，总体发病率为1/600 - 700例出生。胱硫醚β-合酶的过表达被认为参与了唐氏综合征中观察到的一些表型的呈现。
本研究的目的是比较唐氏综合征婴儿和健康新生儿胎盘的胱硫醚β-合酶表达水平及组织病理学观察结果。
研究了6例唐氏综合征胎儿/婴儿的胎盘和16例健康胎儿的胎盘。分别通过实时PCR和免疫组织化学检测胱硫醚β-合酶mRNA和蛋白表达。
与对照组相比，我们观察到唐氏综合征胎儿/婴儿胎盘中胱硫醚β-合酶mRNA表达增加（p = 0.0465）和蛋白水平增加（p = 0.009）。与对照组相比，唐氏综合征组观察到明显更多的环状边缘（p = 0.0007）和滋养层包涵体（p = 0.0037）。
结果表明21三体胎儿/婴儿胎盘中胱硫醚β-合酶mRNA和蛋白过表达。在唐氏综合征患者的胎盘中发现了进一步的组织学异常，提示胎盘发育存在改变。
